Literature DB >> 10384370

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

K Hyland1, T G Nygaard, J M Trugman, K J Swoboda, L A Arnold, S P Sparagana.   

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Year:  1999        PMID： 10384370     DOI： 10.1023/a:1005532610051

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  Hereditary progressive dystonia with marked diurnal fluctuation.

Authors:  M Segawa; A Hosaka; F Miyagawa; Y Nomura; H Imai
Journal:  Adv Neurol       Date:  1976

2.  Metabolism of the phenylalanine hydroxylation cofactor.

Authors:  S Kaufman
Journal:  J Biol Chem       Date:  1967-09-10       Impact factor: 5.157

Review 3.  Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis.

Authors:  T G Nygaard
Journal:  Adv Neurol       Date:  1993

4.  Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.

Authors:  K Hyland; J S Fryburg; W G Wilson; E M Bebin; L A Arnold; R S Gunasekera; R D Jacobson; E Rost-Ruffner; J M Trugman
Journal:  Neurology       Date:  1997-05       Impact factor: 9.910

5.  Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

Authors:  H Ichinose; T Ohye; E Takahashi; N Seki; T Hori; M Segawa; Y Nomura; K Endo; H Tanaka; S Tsuji
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

6.  GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

Authors:  H Ichinose; T Ohye; M Segawa; Y Nomura; K Endo; H Tanaka; S Tsuji; K Fujita; T Nagatsu
Journal:  Neurosci Lett       Date:  1995-08-18       Impact factor: 3.046

7.  Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

Authors:  O Bandmann; T G Nygaard; R Surtees; C D Marsden; N W Wood; A E Harding
Journal:  Hum Mol Genet       Date:  1996-03       Impact factor: 6.150
  7 in total
  5 in total

1.  Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

Authors:  Vincenzo Leuzzi; Claudia Carducci; Flavia Chiarotti; Daniela D'Agnano; Maria Teresa Giannini; Italo Antonozzi; Carla Carducci
Journal:  JIMD Rep       Date:  2012-04-18

Review 2.  Pediatric neurotransmitter diseases.

Authors:  Phillip L Pearl; Denise D Wallis; K Michael Gibson
Journal:  Curr Neurol Neurosci Rep       Date:  2004-03       Impact factor: 5.081

Review 3.  Clinical spectrum of dopa-responsive dystonia and related disorders.

Authors:  Woong-Woo Lee; Beom Seok Jeon
Journal:  Curr Neurol Neurosci Rep       Date:  2014-07       Impact factor: 5.081

4.  A proposed nosology of inborn errors of metabolism.

Authors:  Carlos R Ferreira; Clara D M van Karnebeek; Jerry Vockley; Nenad Blau
Journal:  Genet Med       Date:  2018-06-08       Impact factor: 8.822

Review 5.  Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Authors:  Thomas Opladen; Eduardo López-Laso; Elisenda Cortès-Saladelafont; Toni S Pearson; H Serap Sivri; Yilmaz Yildiz; Birgit Assmann; Manju A Kurian; Vincenzo Leuzzi; Simon Heales; Simon Pope; Francesco Porta; Angeles García-Cazorla; Tomáš Honzík; Roser Pons; Luc Regal; Helly Goez; Rafael Artuch; Georg F Hoffmann; Gabriella Horvath; Beat Thöny; Sabine Scholl-Bürgi; Alberto Burlina; Marcel M Verbeek; Mario Mastrangelo; Jennifer Friedman; Tessa Wassenberg; Kathrin Jeltsch; Jan Kulhánek; Oya Kuseyri Hübschmann
Journal:  Orphanet J Rare Dis       Date:  2020-05-26       Impact factor: 4.123
  5 in total

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